R17H (p.Arg17His) variant of MYH7 (Myosin-7)
R17H (p.Arg17His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs727503280
- ClinGen CA015673
- ClinVar RCV000151316
- ClinVar RCV001093026
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.81
- MetaSVM 0.87
- CADD 34.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)